oa Journal of Endocrinology, Metabolism and Diabetes in South Africa - Multiple endocrine neoplasia type 2A : case report
|Article Title||Multiple endocrine neoplasia type 2A : case report|
|© Publisher:||Medpharm Publications|
|Journal||Journal of Endocrinology, Metabolism and Diabetes in South Africa|
|Author||A.M. Klisiewicz, J. Paiker and S.J. Nayler|
|Publication Date||Apr 2008|
|Pages||18 - 19|
Multiple endocrine neoplasia type 2A (MEN-2A) is an autosomal dominant genetic syndrome consisting of medullary thyroid carcinoma, phaeochromocytoma and hyperparathyroidism. A germline mutation in the RET proto-oncogene which codes for tyrosine kinase receptors expressed in neural-crest derived cells of the thyroid, the parathyroid, adrenal medulla and enteric autonomic plexus results in this syndrome. Genetic testing for mutations in the RET proto-oncogene should now be the standard of care for the diagnosis and screening of families with MEN-2A. This report describes a 34-year-old Congolese man with newly diagnosed MEN-2A.
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